GCNT2 gene

glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group)

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

This gene encodes the enzyme responsible for formation of the blood group I antigen. The i and I antigens are distinguished by linear and branched poly-N-acetyllactosaminoglycans, respectively. The encoded protein is the I-branching enzyme, a beta-1,6-N-acetylglucosaminyltransferase responsible for the conversion of fetal i antigen to adult I antigen in erythrocytes during embryonic development. Mutations in this gene have been associated with adult i blood group phenotype. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]

From UniProt:

Isoform C: Determines the expression of the blood group I antigen in erythrocytes.

Branching enzyme that converts linear into branched poly-N-acetyllactosaminoglycans. Introduces the blood group I antigen during embryonic development. It is closely associated with the development and maturation of erythroid cells.

From NCBI Gene:

  • Cataract 13 with adult i phenotype
  • I blood group system

From UniProt:

Cataract 13, with adult i phenotype (CTRCT13): An opacification of the crystalline lens of the eye that frequently results in visual impairment or blindness. Opacities vary in morphology, are often confined to a portion of the lens, and may be static or progressive. In general, the more posteriorly located and dense an opacity, the greater the impact on visual function. CTRCT13 is associated with the rare adult i phenotype, in which adult red blood cells are rich in i antigen and contain low levels of I antigen. [MIM:116700]

Cytogenetic Location: 6p24.3-p24.2, which is the short (p) arm of chromosome 6 between positions 24.3 and 24.2

Molecular Location: base pairs 10,521,283 to 10,629,368 on chromosome 6 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 6p24.3-p24.2, which is the short (p) arm of chromosome 6 between positions 24.3 and 24.2
  • bA360O19.2
  • bA421M1.1
  • CCAT
  • CTRCT13
  • GCNT2C
  • GCNT5
  • IGNT
  • II
  • NACGT1
  • NAGCT1
  • ULG3